ClinVar Miner

Submissions for variant NM_001017980.4(VMA21):c.228C>A (p.Val76=)

gnomAD frequency: 0.00001  dbSNP: rs1420326652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002158405 SCV002464485 likely benign X-linked myopathy with excessive autophagy 2022-11-01 criteria provided, single submitter clinical testing

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